title: Lipoprotein lipase activity in heterozygotes for lipoprotein lipase gene mutations reveals a gender bias.
abstract: BACKGROUND
  Familial lipoprotein lipase (LPL) deficiency is a very rare autosomal recessive disorder characterized by marked elevation of plasma triglyceride concentrations. Since 1989, a variety of mutations have been reported in affected patients. Studies on subjects with heterozygous LPL deficiency, on the other hand, have been limited.
  
  
  METHODS
  We examined post-heparin plasma LPL activity in 15 subjects with heterozygous LPL deficiency.
  
  
  RESULTS
  The heterozygotes exhibited normal or slightly elevated plasma triglyceride concentrations. The mean LPL activity was reduced by 25% in the heterozygotes relative to controls. Interestingly, LPL activity was reduced specifically in female heterozygotes.
  
  
  CONCLUSIONS
  LPL activity is decreased in female, but not in male, subjects heterozygous for a number of different LPL gene mutations.
authors.affiliation: Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Murase
authors.forename: Tetsu
authors.initials: T
authors.lastname: Ebara
authors.forename: Minoru
authors.initials: M
authors.lastname: Okubo
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D009154:Mutation; D012727:Sex Characteristics; D014280:Triglycerides / Q000097:blood; D055815:Young Adult
chemical_list: D015415:Biomarkers; D014280:Triglycerides; D008071:Lipoprotein Lipase
keywords: Familial lipoprotein lipase deficiency; lipoprotein lipase activity; lipoprotein lipase gene mutation; obligate heterozygotes; serum triglyceride concentrations